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Terminology chevron_right Concepts chevron_right 192787004

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192787004
The component that hold information about this concept.
B variant hexosaminidase a deficiency (disorder)
B variant hexosaminidase a deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

B variant hexosaminidase a deficiency (disorder)

SCTID: 192787004, Primitive, Active


192787004|B variant hexosaminidase a deficiency (disorder)|
  • en B variant hexosaminidase a deficiency (disorder)
  • en B variant hexosaminidase a deficiency

192787004 |B variant hexosaminidase a deficiency (disorder)|

<<< 111385000 |Tay-sachs disease (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
Active

576606015 - B variant hexosaminidase A deficiency (disorder) (en) View

576606015
en
Fully specified name (core metadata concept)
B variant hexosaminidase A deficiency (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

296986019 - B variant hexosaminidase A deficiency (en) View

296986019
en
Synonym (core metadata concept)
B variant hexosaminidase A deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (462911021) - 192787004 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (462912025) - 192787004 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (19677027) - 192787004 -> 111385000 (116680003) View

116680003 |Is a (attribute)|
111385000 |Tay-sachs disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

111385000 View

111385000
Tay-sachs disease (disorder)
Tsd
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

238021002 View

238021002
B variant hexosaminidase a deficiency - infantile (disorder)
B variant hexosaminidase a deficiency - infantile
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

238022009 View

238022009
B variant hexosaminidase a deficiency - juvenile (disorder)
B variant hexosaminidase a deficiency - juvenile
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

238023004 View

238023004
B variant hexosaminidase a deficiency - adult (disorder)
B variant hexosaminidase a deficiency - adult
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (66f68fb8-c564-5062-8065-77c9476d13c5) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E75.0
TRUE
ALWAYS E75.0
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|
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